Variant report

Variant	rs12514472
Chromosome Location	chr5:95299724-95299725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:95299470-95299750	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr5:95299563-95299775	K562	blood:	n/a	n/a
3	SP1	chr5:95299277-95299756	H1-hESC	embryonic stem cell:	n/a	chr5:95299569-95299580 chr5:95299634-95299648 chr5:95299496-95299510
4	JUND	chr5:95299458-95299748	K562	blood:	n/a	n/a
5	CEBPB	chr5:95299499-95299732	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr5:95299334-95299825	H1-hESC	embryonic stem cell:	n/a	chr5:95299569-95299580 chr5:95299634-95299648 chr5:95299496-95299510

No.	Distal block	Cell Line	Cell type
1	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
2	chr5:95297972..95300750-chr5:95328029..95330073,2	K562	blood:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:

Variant related genes	Relation type
ELL2	TF binding region
ENSG00000213716	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10515233	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10515234	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11948037	0.84[AMR][1000 genomes]
rs12514954	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12517786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12522489	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12523306	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17085339	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17085366	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17085373	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17085393	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28521883	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3756701	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3777174	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3777176	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3777177	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3777180	0.91[ASN][1000 genomes]
rs58389685	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60908902	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61268106	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6143071	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6556897	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6861075	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6872006	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6891082	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6891633	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6893788	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73771827	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7700606	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7724475	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7736480	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs977128	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs977129	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298400-95299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95298400-95301600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:95298400-95309200	Weak transcription	NHLF	lung
4	chr5:95298600-95300000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr5:95298600-95300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:95298600-95300000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:95298600-95300000	Enhancers	HMEC	breast
8	chr5:95298600-95300000	Enhancers	K562	blood
9	chr5:95298600-95300200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:95298600-95300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:95298600-95300200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:95298600-95300400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:95298600-95300600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:95298600-95301400	Weak transcription	A549	lung
15	chr5:95298600-95302000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:95298600-95305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95298600-95305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:95298800-95300000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:95298800-95300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:95298800-95300000	Enhancers	NHEK	skin
21	chr5:95298800-95300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:95298800-95300600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:95298800-95301400	Weak transcription	Stomach Mucosa	stomach
24	chr5:95298800-95302000	Weak transcription	Gastric	stomach
25	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
26	chr5:95299200-95299800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:95299200-95300000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:95299200-95300200	Weak transcription	HepG2	liver
29	chr5:95299200-95300400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:95299200-95300600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:95299600-95299800	Enhancers	Liver	Liver
32	chr5:95299600-95309000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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